Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1114167354
rs1114167354
1 1.000 10 34341696 missense variant T/C snv 0.800 1.000 1 2017 2017
dbSNP: rs781461462
rs781461462
1 1.000 10 34331221 missense variant G/A;C;T snv 1.6E-05 0.800 1.000 1 2017 2017
dbSNP: rs199923448
rs199923448
1 1.000 10 34382893 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.700 1.000 1 2017 2017
dbSNP: rs557643577
rs557643577
1 1.000 10 34450451 splice region variant A/G snv 5.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs757259023
rs757259023
1 1.000 10 34111495 missense variant C/T snv 1.3E-04 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs762921297
rs762921297
1 1.000 10 34336232 missense variant T/A snv 2.6E-04 7.7E-05 0.700 1.000 1 2017 2017